G103D (p.Gly103Asp) variant of GBA1 (P04062)
G103D (p.Gly103Asp) in GBA1 (P04062) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G103D (p.Gly103Asp) variant details
- p.Gly103Asp
- rs748485792
- NCI-TCGA Cosmic COSV5916
- ExAC rs748485792
- gnomAD rs748485792
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.43
- CADD 19.30
- PolyPhen-2 0.02
- SIFT 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available